Please use this identifier to cite or link to this item: https://doi.org/10.1038/s42003-020-01421-2
Title: Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract
Authors: Yonova-Doing, E.
Zhao, W.
Igo, R.P.
Wang, C.
Sundaresan, P.
Lee, K.E.
Jun, G.R.
Alves, A.C.
Chai, X.
Chan, A.S.Y. 
Lee, M.C.
Fong, A.
Tan, A.G.
Khor, C.C.
Chew, E.Y.
Hysi, P.G.
Fan, Q.
Chua, J.
Chung, J.
Liao, J.
Colijn, J.M.
Burdon, K.P.
Fritsche, L.G.
Swift, M.K.
Hilmy, M.H.
Chee, M.L.
Tedja, M.
Bonnemaijer, P.W.M.
Gupta, P.
Tan, Q.S.
Li, Z.
Vithana, E.N.
Ravindran, R.D.
Chee, S.-P.
Shi, Y.
Liu, W.
Su, X.
Sim, X. 
Shen, Y.
Wang, Y.X.
Li, H.
Tham, Y.-C.
Teo, Y.Y. 
Aung, T.
Small, K.S.
Mitchell, P.
Jonas, J.B.
Wong, Tien Yin
Fletcher, A.E.
Klaver, C.C.W.
Klein, B.E.K.
Wang, J.J. 
Iyengar, S.K.
Hammond, C.J.
Cheng, C.-Y.
Issue Date: 2020
Publisher: Nature Research
Citation: Yonova-Doing, E., Zhao, W., Igo, R.P., Wang, C., Sundaresan, P., Lee, K.E., Jun, G.R., Alves, A.C., Chai, X., Chan, A.S.Y., Lee, M.C., Fong, A., Tan, A.G., Khor, C.C., Chew, E.Y., Hysi, P.G., Fan, Q., Chua, J., Chung, J., Liao, J., Colijn, J.M., Burdon, K.P., Fritsche, L.G., Swift, M.K., Hilmy, M.H., Chee, M.L., Tedja, M., Bonnemaijer, P.W.M., Gupta, P., Tan, Q.S., Li, Z., Vithana, E.N., Ravindran, R.D., Chee, S.-P., Shi, Y., Liu, W., Su, X., Sim, X., Shen, Y., Wang, Y.X., Li, H., Tham, Y.-C., Teo, Y.Y., Aung, T., Small, K.S., Mitchell, P., Jonas, J.B., Wong, Tien Yin, Fletcher, A.E., Klaver, C.C.W., Klein, B.E.K., Wang, J.J., Iyengar, S.K., Hammond, C.J., Cheng, C.-Y. (2020). Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract. Communications Biology 3 (1) : 755. ScholarBank@NUS Repository. https://doi.org/10.1038/s42003-020-01421-2
Rights: Attribution 4.0 International
Abstract: Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h2 = 0.48), but little is known about specific genetic factors underlying this condition. Here we report findings from the largest to date multi-ethnic meta-analysis of genome-wide association studies (discovery cohort N = 14,151 and replication N = 5299) of the International Cataract Genetics Consortium. We confirmed the known genetic association of CRYAA (rs7278468, P = 2.8 × 10?16) with nuclear cataract and identified five new loci associated with this disease: SOX2-OT (rs9842371, P = 1.7 × 10?19), TMPRSS5 (rs4936279, P = 2.5 × 10?10), LINC01412 (rs16823886, P = 1.3 × 10?9), GLTSCR1 (rs1005911, P = 9.8 × 10?9), and COMMD1 (rs62149908, P = 1.2 × 10?8). The results suggest a strong link of age-related nuclear cataract with congenital cataract and eye development genes, and the importance of common genetic variants in maintaining crystalline lens integrity in the aging eye. © 2020, The Author(s).
Source Title: Communications Biology
URI: https://scholarbank.nus.edu.sg/handle/10635/199247
ISSN: 2399-3642
DOI: 10.1038/s42003-020-01421-2
Rights: Attribution 4.0 International
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